SNP Links for Nucleotide (Select 1022943332) - SNP

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:56268706 (GRCh38)
X:56295140 (GRCh37)
Canonical SPDI:: NC_000023.11:56268706:TTT:TTTT
Gene:: KLF8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56268709dup, NC_000023.10:g.56295142dup, NG_011949.2:g.365587dup, NR_136705.1:n.4590dup

Select item 148793763910.

rs1487937639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56267110 (GRCh38)
X:56293543 (GRCh37)
Canonical SPDI:: NC_000023.11:56267109:G:A
Gene:: KLF8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.56267110G>A, NC_000023.10:g.56293543G>A, NG_011949.2:g.363988G>A, NR_136705.1:n.2991G>A

Select item 148784854311.

rs1487848543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56285177 (GRCh38)
X:56311610 (GRCh37)
Canonical SPDI:: NC_000023.11:56285176:C:T
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56285177C>T, NC_000023.10:g.56311610C>T, NG_011949.2:g.382055C>T, NM_007250.5:c.*683C>T, NM_007250.4:c.*683C>T, NM_001159296.2:c.*849C>T, NM_001159296.1:c.*849C>T, NR_136705.1:n.6375C>T, NM_001324105.1:c.*683C>T, NM_001324102.1:c.*683C>T, NM_001324104.1:c.*683C>T, NR_136704.1:n.2019C>T, NM_001324099.1:c.*849C>T, NM_001324100.1:c.*683C>T, XM_006724575.3:c.*849C>T, XM_006724575.2:c.*849C>T, XM_006724575.1:c.*849C>T, XM_017029250.3:c.*683C>T, XM_017029250.2:c.*683C>T, XM_017029250.1:c.*683C>T, XM_047441795.1:c.*683C>T, XM_047441799.1:c.*683C>T, XM_047441797.1:c.*683C>T, XM_047441796.1:c.*683C>T, XM_047441798.1:c.*683C>T, XM_047441800.1:c.*683C>T

Select item 148778646312.

rs1487786463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56287231 (GRCh38)
X:56313664 (GRCh37)
Canonical SPDI:: NC_000023.11:56287230:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.56287231A>G, NC_000023.10:g.56313664A>G, NG_011949.2:g.384109A>G, NM_007250.5:c.*2737A>G, NM_007250.4:c.*2737A>G, NM_001159296.2:c.*2903A>G, NM_001159296.1:c.*2903A>G, NR_136705.1:n.8429A>G, NM_001324105.1:c.*2737A>G, NM_001324102.1:c.*2737A>G, NM_001324104.1:c.*2737A>G, NR_136704.1:n.4073A>G, NM_001324099.1:c.*2903A>G, NM_001324100.1:c.*2737A>G, XM_006724575.3:c.*2903A>G, XM_006724575.2:c.*2903A>G, XM_006724575.1:c.*2903A>G, XM_017029250.3:c.*2737A>G, XM_017029250.2:c.*2737A>G, XM_017029250.1:c.*2737A>G, XM_047441795.1:c.*2737A>G, XM_047441799.1:c.*2737A>G, XM_047441797.1:c.*2737A>G, XM_047441796.1:c.*2737A>G, XM_047441798.1:c.*2737A>G, XM_047441800.1:c.*2737A>G

Select item 148737057213.

rs1487370572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56286003 (GRCh38)
X:56312436 (GRCh37)
Canonical SPDI:: NC_000023.11:56286002:C:T
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56286003C>T, NC_000023.10:g.56312436C>T, NG_011949.2:g.382881C>T, NM_007250.5:c.*1509C>T, NM_007250.4:c.*1509C>T, NM_001159296.2:c.*1675C>T, NM_001159296.1:c.*1675C>T, NR_136705.1:n.7201C>T, NM_001324105.1:c.*1509C>T, NM_001324102.1:c.*1509C>T, NM_001324104.1:c.*1509C>T, NR_136704.1:n.2845C>T, NM_001324099.1:c.*1675C>T, NM_001324100.1:c.*1509C>T, XM_006724575.3:c.*1675C>T, XM_006724575.2:c.*1675C>T, XM_006724575.1:c.*1675C>T, XM_017029250.3:c.*1509C>T, XM_017029250.2:c.*1509C>T, XM_017029250.1:c.*1509C>T, XM_047441795.1:c.*1509C>T, XM_047441799.1:c.*1509C>T, XM_047441797.1:c.*1509C>T, XM_047441796.1:c.*1509C>T, XM_047441798.1:c.*1509C>T, XM_047441800.1:c.*1509C>T

Select item 148710586314.

rs1487105863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56285348 (GRCh38)
X:56311781 (GRCh37)
Canonical SPDI:: NC_000023.11:56285347:G:A
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.56285348G>A, NC_000023.10:g.56311781G>A, NG_011949.2:g.382226G>A, NM_007250.5:c.*854G>A, NM_007250.4:c.*854G>A, NM_001159296.2:c.*1020G>A, NM_001159296.1:c.*1020G>A, NR_136705.1:n.6546G>A, NM_001324105.1:c.*854G>A, NM_001324102.1:c.*854G>A, NM_001324104.1:c.*854G>A, NR_136704.1:n.2190G>A, NM_001324099.1:c.*1020G>A, NM_001324100.1:c.*854G>A, XM_006724575.3:c.*1020G>A, XM_006724575.2:c.*1020G>A, XM_006724575.1:c.*1020G>A, XM_017029250.3:c.*854G>A, XM_017029250.2:c.*854G>A, XM_017029250.1:c.*854G>A, XM_047441795.1:c.*854G>A, XM_047441799.1:c.*854G>A, XM_047441797.1:c.*854G>A, XM_047441796.1:c.*854G>A, XM_047441798.1:c.*854G>A, XM_047441800.1:c.*854G>A

Select item 148694178915.

rs1486941789 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:56290720 (GRCh38)
X:56317154 (GRCh37)
Canonical SPDI:: NC_000023.11:56290720:A:AA
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56290721dup, NC_000023.10:g.56317154dup, NG_011949.2:g.387599dup, NM_007250.5:c.*6227dup, NM_001159296.2:c.*6393dup, NR_136705.1:n.11919dup, NM_001324105.1:c.*6227dup, NM_001324102.1:c.*6227dup, NM_001324104.1:c.*6227dup, NR_136704.1:n.7563dup, NM_001324099.1:c.*6393dup, NM_001324100.1:c.*6227dup, XM_006724575.3:c.*6393dup, XM_006724575.2:c.*6393dup, XM_017029250.3:c.*6227dup, XM_017029250.2:c.*6227dup, XM_017029250.1:c.*6227dup, XM_047441795.1:c.*6227dup, XM_047441799.1:c.*6227dup, XM_047441797.1:c.*6227dup, XM_047441796.1:c.*6227dup, XM_047441798.1:c.*6227dup, XM_047441800.1:c.*6227dup

Select item 148692630316.

rs1486926303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56268868 (GRCh38)
X:56295301 (GRCh37)
Canonical SPDI:: NC_000023.11:56268867:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56268868A>G, NC_000023.10:g.56295301A>G, NG_011949.2:g.365746A>G, NR_136705.1:n.4749A>G

Select item 148682060517.

rs1486820605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56286698 (GRCh38)
X:56313131 (GRCh37)
Canonical SPDI:: NC_000023.11:56286697:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.56286698A>G, NC_000023.10:g.56313131A>G, NG_011949.2:g.383576A>G, NM_007250.5:c.*2204A>G, NM_007250.4:c.*2204A>G, NM_001159296.2:c.*2370A>G, NM_001159296.1:c.*2370A>G, NR_136705.1:n.7896A>G, NM_001324105.1:c.*2204A>G, NM_001324102.1:c.*2204A>G, NM_001324104.1:c.*2204A>G, NR_136704.1:n.3540A>G, NM_001324099.1:c.*2370A>G, NM_001324100.1:c.*2204A>G, XM_006724575.3:c.*2370A>G, XM_006724575.2:c.*2370A>G, XM_006724575.1:c.*2370A>G, XM_017029250.3:c.*2204A>G, XM_017029250.2:c.*2204A>G, XM_017029250.1:c.*2204A>G, XM_047441795.1:c.*2204A>G, XM_047441799.1:c.*2204A>G, XM_047441797.1:c.*2204A>G, XM_047441796.1:c.*2204A>G, XM_047441798.1:c.*2204A>G, XM_047441800.1:c.*2204A>G

Select item 148656461318.

rs1486564613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56290206 (GRCh38)
X:56316639 (GRCh37)
Canonical SPDI:: NC_000023.11:56290205:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56290206A>G, NC_000023.10:g.56316639A>G, NG_011949.2:g.387084A>G, NM_007250.5:c.*5712A>G, NM_001159296.2:c.*5878A>G, NR_136705.1:n.11404A>G, NM_001324105.1:c.*5712A>G, NM_001324102.1:c.*5712A>G, NM_001324104.1:c.*5712A>G, NR_136704.1:n.7048A>G, NM_001324099.1:c.*5878A>G, NM_001324100.1:c.*5712A>G, XM_006724575.3:c.*5878A>G, XM_006724575.2:c.*5878A>G, XM_017029250.3:c.*5712A>G, XM_017029250.2:c.*5712A>G, XM_017029250.1:c.*5712A>G, XM_047441795.1:c.*5712A>G, XM_047441799.1:c.*5712A>G, XM_047441797.1:c.*5712A>G, XM_047441796.1:c.*5712A>G, XM_047441798.1:c.*5712A>G, XM_047441800.1:c.*5712A>G

Select item 148650133719.

rs1486501337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56266567 (GRCh38)
X:56293000 (GRCh37)
Canonical SPDI:: NC_000023.11:56266566:T:C
Gene:: KLF8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56266567T>C, NC_000023.10:g.56293000T>C, NG_011949.2:g.363445T>C, NR_136705.1:n.2448T>C

Select item 148612311720.

rs1486123117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56269001 (GRCh38)
X:56295434 (GRCh37)
Canonical SPDI:: NC_000023.11:56269000:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.00002/1 (GnomAD)
HGVS:: NC_000023.11:g.56269001A>G, NC_000023.10:g.56295434A>G, NG_011949.2:g.365879A>G, NR_136705.1:n.4882A>G, XM_024452332.2:c.*48A>G, XM_024452332.1:c.*48A>G

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